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Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene

Citation

Sale, MM and Craig, JE and Charlesworth, JC and Fitzgerald, LM and Hanson, I and Dickinson, JL and Matthews, S and van Heyningen, V and Fingert, J and Mackey, DA, Broad Phenotypic variability in a Single Pedigree With a Novel 1410delC Mutation in the PST Domain of the PAX6 Gene, Human Mutation, 20, (4) pp. 322. ISSN 1098-1004 (2002) [Refereed Article]

DOI: doi:10.1002/humu.9066

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Medical Genetics (excl. Cancer Genetics)
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Sale, MM (Dr Michele Sale)
Author:Craig, JE (Mr Jamie Craig)
Author:Charlesworth, JC (Dr Jac Charlesworth)
Author:Fitzgerald, LM (Dr Liesel Fitzgerald)
Author:Dickinson, JL (Associate Professor Joanne Dickinson)
Author:Mackey, DA (Professor David Mackey)
ID Code:24652
Year Published:2002
Web of Science® Times Cited:30
Deposited By:Menzies Centre
Deposited On:2002-08-01
Last Modified:2011-10-07
Downloads:0

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